"Ambry Genetics"[submitter] AND "BUD23"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135626	NM_017528.5(BUD23):c.5C>T (p.Ala2Val)	BUD23 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135616	NM_017528.5(BUD23):c.13G>A (p.Gly5Ser)	BUD23 (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554783	NM_017528.5(BUD23):c.19C>T (p.Arg7Cys)	BUD23 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657567	NM_017528.5(BUD23):c.71G>A (p.Arg24Gln)	BUD23 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3135618	NM_017528.5(BUD23):c.157A>G (p.Lys53Glu)	BUD23 (K53E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135619	NM_017528.5(BUD23):c.188G>A (p.Gly63Asp)	BUD23 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135620	NM_017528.5(BUD23):c.246T>A (p.Asp82Glu)	BUD23 (D82E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135621	NM_017528.5(BUD23):c.281G>T (p.Arg94Leu)	BUD23 (R94L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135622	NM_017528.5(BUD23):c.360C>G (p.Ile120Met)	BUD23 (I120M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135623	NM_017528.5(BUD23):c.401A>G (p.Lys134Arg)	BUD23 (K134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135624	NM_017528.5(BUD23):c.463C>T (p.Arg155Trp)	BUD23 (R155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135625	NM_017528.5(BUD23):c.514G>A (p.Glu172Lys)	BUD23 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135627	NM_017528.5(BUD23):c.672A>C (p.Glu224Asp)	BUD23 (E224D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536101	NM_017528.5(BUD23):c.683C>T (p.Ser228Phe)	BUD23 (S228F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135628	NM_017528.5(BUD23):c.692C>T (p.Thr231Ile)	BUD23 (T231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135629	NM_017528.5(BUD23):c.702-107G>A	BUD23 (R245Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135630	NM_017528.5(BUD23):c.724C>T (p.Arg242Trp)	BUD23 (R259W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135631	NM_017528.5(BUD23):c.725G>C (p.Arg242Pro)	BUD23 (R242P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135632	NM_017528.5(BUD23):c.728G>A (p.Gly243Glu)	BUD23 (G243E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479179	NM_017528.5(BUD23):c.745C>T (p.Arg249Trp)	BUD23 (R266W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591316	NM_017528.5(BUD23):c.773G>A (p.Arg258Gln)	BUD23 (R258Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135633	NM_017528.5(BUD23):c.799A>G (p.Arg267Gly)	BUD23 (R267G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135634	NM_017528.5(BUD23):c.838C>T (p.Arg280Cys)	BUD23 (R280C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23